Childhood neuromuscular disorders are devastating conditions associated with major
disability and shortened life span. They encompass common muscular dystrophies such
as Duchenne muscular dystrophy (DMD); motorneuron diseases such as spinal muscular
atrophy (SMA), and less common limb girdle muscular dystrophies and congenital myopathies.
Each of these conditions presents its own therapeutic challenges. The major hurdle
in muscular dystrophies is the abundance of the target organ (skeletal muscle is ~40%
of the body weight), the need to target the heart and, in DMD, the large size of its
cDNA that precludes its packaging in commonly used viral vectors. For SMA1, one of
the challenges is the need to target all motorneurons, and the short window for therapeutic
intervention in this rapidly progressive condition. In myotubular myopathy, the profound
severity and rarity of affected children complicates the design and execution of clinical
trials. The therapeutic landscape is however changing very rapidly, following landmark
studies and global approval of one AAV for SMA, and several ongoing trials on DMD.
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